Incidental Mutation 'R0919:Scaf8'
ID |
82795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scaf8
|
Ensembl Gene |
ENSMUSG00000046201 |
Gene Name |
SR-related CTD-associated factor 8 |
Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
MMRRC Submission |
039069-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.761)
|
Stock # |
R0919 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
3165247-3249134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3247395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 906
(L906S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
|
AlphaFold |
Q6DID3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076734
AA Change: L906S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000076024 Gene: ENSMUSG00000046201 AA Change: L906S
Domain | Start | End | E-Value | Type |
RPR
|
6 |
136 |
1.26e-42 |
SMART |
low complexity region
|
157 |
171 |
N/A |
INTRINSIC |
low complexity region
|
193 |
223 |
N/A |
INTRINSIC |
low complexity region
|
232 |
251 |
N/A |
INTRINSIC |
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
low complexity region
|
305 |
326 |
N/A |
INTRINSIC |
low complexity region
|
363 |
380 |
N/A |
INTRINSIC |
low complexity region
|
397 |
462 |
N/A |
INTRINSIC |
RRM
|
478 |
547 |
9.2e-14 |
SMART |
low complexity region
|
644 |
677 |
N/A |
INTRINSIC |
low complexity region
|
685 |
712 |
N/A |
INTRINSIC |
low complexity region
|
857 |
883 |
N/A |
INTRINSIC |
low complexity region
|
941 |
953 |
N/A |
INTRINSIC |
low complexity region
|
962 |
971 |
N/A |
INTRINSIC |
low complexity region
|
1027 |
1044 |
N/A |
INTRINSIC |
internal_repeat_1
|
1048 |
1064 |
2e-5 |
PROSPERO |
internal_repeat_1
|
1059 |
1075 |
2e-5 |
PROSPERO |
low complexity region
|
1146 |
1168 |
N/A |
INTRINSIC |
low complexity region
|
1249 |
1268 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231685
|
Meta Mutation Damage Score |
0.0962 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
C |
A |
18: 65,440,544 (GRCm39) |
C283F |
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,459,651 (GRCm39) |
R1803G |
probably benign |
Het |
Anapc4 |
T |
C |
5: 53,012,979 (GRCm39) |
V423A |
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,465,483 (GRCm39) |
I2120T |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,968,143 (GRCm39) |
H1109Q |
probably benign |
Het |
Cfap418 |
A |
G |
4: 10,882,462 (GRCm39) |
T124A |
probably benign |
Het |
Cfap70 |
G |
A |
14: 20,454,232 (GRCm39) |
P851S |
probably benign |
Het |
Clcf1 |
T |
A |
19: 4,272,252 (GRCm39) |
L103Q |
probably damaging |
Het |
Col11a2 |
T |
A |
17: 34,278,124 (GRCm39) |
V1032E |
possibly damaging |
Het |
Cyp2c38 |
T |
G |
19: 39,393,113 (GRCm39) |
D318A |
probably benign |
Het |
Dbpht2 |
A |
G |
12: 74,345,774 (GRCm39) |
|
noncoding transcript |
Het |
Dhx34 |
A |
C |
7: 15,935,883 (GRCm39) |
V893G |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,815,828 (GRCm39) |
C3854S |
possibly damaging |
Het |
Htr1a |
T |
C |
13: 105,581,344 (GRCm39) |
Y195H |
probably damaging |
Het |
Insr |
A |
G |
8: 3,208,769 (GRCm39) |
S1231P |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Kpna4 |
A |
T |
3: 68,993,161 (GRCm39) |
|
probably benign |
Het |
Or52d13 |
A |
G |
7: 103,110,019 (GRCm39) |
I132T |
probably damaging |
Het |
Or52e8 |
A |
T |
7: 104,624,519 (GRCm39) |
Y228* |
probably null |
Het |
Or5m3 |
A |
G |
2: 85,838,984 (GRCm39) |
Y288C |
possibly damaging |
Het |
Osbpl7 |
G |
A |
11: 96,946,927 (GRCm39) |
R239H |
possibly damaging |
Het |
Prkce |
G |
A |
17: 86,937,588 (GRCm39) |
V674I |
probably benign |
Het |
Prkrip1 |
T |
C |
5: 136,226,685 (GRCm39) |
M52V |
possibly damaging |
Het |
Sash1 |
A |
G |
10: 8,605,843 (GRCm39) |
M849T |
probably benign |
Het |
Sfmbt2 |
T |
C |
2: 10,582,382 (GRCm39) |
L676P |
probably benign |
Het |
Sgsm1 |
C |
T |
5: 113,406,708 (GRCm39) |
V923I |
probably damaging |
Het |
Slc38a3 |
A |
T |
9: 107,533,158 (GRCm39) |
L305Q |
probably damaging |
Het |
Slc44a5 |
A |
G |
3: 153,949,223 (GRCm39) |
Y232C |
probably damaging |
Het |
Spag17 |
A |
T |
3: 99,979,259 (GRCm39) |
|
probably benign |
Het |
Synm |
T |
C |
7: 67,385,095 (GRCm39) |
I414V |
probably damaging |
Het |
Tbc1d12 |
C |
T |
19: 38,902,493 (GRCm39) |
H551Y |
possibly damaging |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Trpc7 |
C |
T |
13: 56,970,462 (GRCm39) |
|
probably benign |
Het |
Trpm7 |
G |
A |
2: 126,673,158 (GRCm39) |
R532C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,777,086 (GRCm39) |
K1485* |
probably null |
Het |
Txn2 |
T |
C |
15: 77,811,949 (GRCm39) |
D69G |
probably damaging |
Het |
U2af2 |
C |
T |
7: 5,072,433 (GRCm39) |
|
probably benign |
Het |
Ubn1 |
T |
C |
16: 4,882,255 (GRCm39) |
Y239H |
probably damaging |
Het |
Ubtf |
A |
G |
11: 102,200,603 (GRCm39) |
|
probably benign |
Het |
Usp49 |
T |
A |
17: 47,983,376 (GRCm39) |
V127D |
probably benign |
Het |
Washc2 |
C |
T |
6: 116,185,225 (GRCm39) |
R20W |
probably damaging |
Het |
Zscan10 |
T |
C |
17: 23,828,981 (GRCm39) |
S476P |
probably damaging |
Het |
|
Other mutations in Scaf8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00496:Scaf8
|
APN |
17 |
3,221,409 (GRCm39) |
missense |
unknown |
|
IGL00956:Scaf8
|
APN |
17 |
3,221,422 (GRCm39) |
missense |
unknown |
|
IGL01610:Scaf8
|
APN |
17 |
3,246,124 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01967:Scaf8
|
APN |
17 |
3,247,213 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02005:Scaf8
|
APN |
17 |
3,236,145 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03037:Scaf8
|
APN |
17 |
3,240,496 (GRCm39) |
missense |
probably damaging |
0.99 |
BB004:Scaf8
|
UTSW |
17 |
3,209,495 (GRCm39) |
missense |
unknown |
|
BB014:Scaf8
|
UTSW |
17 |
3,209,495 (GRCm39) |
missense |
unknown |
|
R0320:Scaf8
|
UTSW |
17 |
3,228,530 (GRCm39) |
missense |
unknown |
|
R0789:Scaf8
|
UTSW |
17 |
3,247,112 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0850:Scaf8
|
UTSW |
17 |
3,246,049 (GRCm39) |
splice site |
probably null |
|
R1488:Scaf8
|
UTSW |
17 |
3,247,872 (GRCm39) |
missense |
probably damaging |
0.97 |
R1544:Scaf8
|
UTSW |
17 |
3,195,429 (GRCm39) |
missense |
probably damaging |
0.96 |
R1928:Scaf8
|
UTSW |
17 |
3,218,352 (GRCm39) |
missense |
unknown |
|
R1972:Scaf8
|
UTSW |
17 |
3,219,646 (GRCm39) |
missense |
unknown |
|
R2156:Scaf8
|
UTSW |
17 |
3,214,407 (GRCm39) |
splice site |
probably null |
|
R2164:Scaf8
|
UTSW |
17 |
3,247,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R2680:Scaf8
|
UTSW |
17 |
3,247,866 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3794:Scaf8
|
UTSW |
17 |
3,240,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R4368:Scaf8
|
UTSW |
17 |
3,221,470 (GRCm39) |
missense |
unknown |
|
R4673:Scaf8
|
UTSW |
17 |
3,248,260 (GRCm39) |
missense |
probably benign |
0.04 |
R4694:Scaf8
|
UTSW |
17 |
3,247,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R4716:Scaf8
|
UTSW |
17 |
3,227,398 (GRCm39) |
missense |
unknown |
|
R4852:Scaf8
|
UTSW |
17 |
3,228,494 (GRCm39) |
missense |
unknown |
|
R5036:Scaf8
|
UTSW |
17 |
3,214,537 (GRCm39) |
unclassified |
probably benign |
|
R5193:Scaf8
|
UTSW |
17 |
3,240,440 (GRCm39) |
missense |
probably benign |
0.02 |
R5429:Scaf8
|
UTSW |
17 |
3,247,385 (GRCm39) |
missense |
probably benign |
0.14 |
R5816:Scaf8
|
UTSW |
17 |
3,227,988 (GRCm39) |
missense |
unknown |
|
R6050:Scaf8
|
UTSW |
17 |
3,218,383 (GRCm39) |
missense |
unknown |
|
R6493:Scaf8
|
UTSW |
17 |
3,221,394 (GRCm39) |
missense |
unknown |
|
R6616:Scaf8
|
UTSW |
17 |
3,218,330 (GRCm39) |
missense |
unknown |
|
R7065:Scaf8
|
UTSW |
17 |
3,209,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R7112:Scaf8
|
UTSW |
17 |
3,213,304 (GRCm39) |
missense |
unknown |
|
R7141:Scaf8
|
UTSW |
17 |
3,209,457 (GRCm39) |
missense |
unknown |
|
R7198:Scaf8
|
UTSW |
17 |
3,213,373 (GRCm39) |
missense |
unknown |
|
R7265:Scaf8
|
UTSW |
17 |
3,227,900 (GRCm39) |
missense |
unknown |
|
R7592:Scaf8
|
UTSW |
17 |
3,221,497 (GRCm39) |
critical splice donor site |
probably null |
|
R7711:Scaf8
|
UTSW |
17 |
3,237,909 (GRCm39) |
missense |
probably damaging |
0.97 |
R7813:Scaf8
|
UTSW |
17 |
3,247,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R7867:Scaf8
|
UTSW |
17 |
3,227,994 (GRCm39) |
missense |
unknown |
|
R7927:Scaf8
|
UTSW |
17 |
3,209,495 (GRCm39) |
missense |
unknown |
|
R7937:Scaf8
|
UTSW |
17 |
3,247,482 (GRCm39) |
missense |
probably damaging |
0.99 |
R7958:Scaf8
|
UTSW |
17 |
3,221,397 (GRCm39) |
missense |
unknown |
|
R7960:Scaf8
|
UTSW |
17 |
3,221,397 (GRCm39) |
missense |
unknown |
|
R8024:Scaf8
|
UTSW |
17 |
3,209,568 (GRCm39) |
missense |
unknown |
|
R8118:Scaf8
|
UTSW |
17 |
3,214,458 (GRCm39) |
missense |
unknown |
|
R8285:Scaf8
|
UTSW |
17 |
3,227,404 (GRCm39) |
missense |
unknown |
|
R8303:Scaf8
|
UTSW |
17 |
3,198,827 (GRCm39) |
missense |
unknown |
|
R8365:Scaf8
|
UTSW |
17 |
3,246,241 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8544:Scaf8
|
UTSW |
17 |
3,213,295 (GRCm39) |
unclassified |
probably benign |
|
R8768:Scaf8
|
UTSW |
17 |
3,243,349 (GRCm39) |
missense |
probably benign |
0.27 |
R9520:Scaf8
|
UTSW |
17 |
3,248,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R9521:Scaf8
|
UTSW |
17 |
3,248,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R9603:Scaf8
|
UTSW |
17 |
3,246,070 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9622:Scaf8
|
UTSW |
17 |
3,248,170 (GRCm39) |
missense |
probably benign |
0.21 |
R9687:Scaf8
|
UTSW |
17 |
3,221,410 (GRCm39) |
missense |
unknown |
|
Z1088:Scaf8
|
UTSW |
17 |
3,213,258 (GRCm39) |
unclassified |
probably benign |
|
Z1177:Scaf8
|
UTSW |
17 |
3,213,269 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCAAATGTGTCCAGTGGCTCTG -3'
(R):5'- TCCACCTGAGGAGGTCTGGTAATG -3'
Sequencing Primer
(F):5'- CCAGTGGCTCTGGACTTC -3'
(R):5'- TGGCTGACTGAAAAGATCTCCTG -3'
|
Posted On |
2013-11-08 |